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Pediatr Surg Int 2020 Aug 19;36(8):917-924. Epub 2020 Jun 19.

Department of Pediatric Surgery, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Purpose: Analysis of surgical management and survival of pediatric patients with gastric tumors treated at our institution.

Methods: A retrospective study of patients with primary gastric tumors treated between 1993 and 2018 was conducted.

Results: Eight patients, five girls and three boys, were diagnosed with gastric tumors at an average age of 10. Read More

Zhonghua Bing Li Xue Za Zhi 2020 Jun;49(6):625-627

Department of Pathology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.

Respirol Case Rep 2020 Jul 17;8(5):e00585. Epub 2020 May 17.

Complex Operative Unit of Pathology Monaldi Hospital Naples Italy.

We describe a patient with incidental endobronchial synchronous hamartoma and typical carcinoid with different management strategy. Read More

Gen Thorac Cardiovasc Surg 2020 May 2. Epub 2020 May 2.

Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University, 04100, Latina, Italy.

Mesenchymal cystic hamartoma (MCH) of the lung is a rare disease, with an indolent course in the majority of cases. It can be single or multifocal and it is composed of primitive mesenchymal cells admixed with cystic spaces. Only few cases have been reported in the literature, with variable clinical presentation. Read More

Cureus 2020 Mar 25;12(3):e7411. Epub 2020 Mar 25.

Clinic for Thoracic Surgery, Institute for Pulmonary Diseases of Vojvodina, Sremska Kamenica, SRB.

Pulmonary hamartomas are usually solitary, nodular benign lesions in the parenchyma of the lung. They are rarely situated in endobronchial areas, and very few cases are reported with the mediastinum.  A 56-year-old female patient got a CT-scan conducted due to coughing and breathlessness and was diagnosed with a nodular lesion in the medial mediastinum. Read More

Respirol Case Rep 2020 May 6;8(4):e00553. Epub 2020 Apr 6.

Department of Thoracic Surgery Kurobe City Hospital Kurobe Japan.

We report a rare case of peripheral pulmonary hamartoma that caused haemoptysis from the non-adjacent bronchus. A 54-year-old man was admitted to our hospital because of haemoptysis. Contrast-enhanced chest computed tomography revealed a tumour measuring 25 × 24 mm in the left lower lobe. Read More

Virchows Arch 2020 Mar 19. Epub 2020 Mar 19.

Institute of Pathology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), University Hospital, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.

As one of the most common target organs for hematogenous spread from diverse cancers, biopsy interpretation of lung tumors is complicated by the challenging question of primary versus metastatic and by frequent entrapment of native respiratory glands. Nevertheless, the literature dealing with this issue is surprisingly sparse and no single study has been devoted to this topic. We reviewed 47 surgical lung specimens of non-epithelial neoplasms (38 metastases, mainly from sarcomas and 9 primary lesions) for frequency and pattern of intralesional epithelial entrapment. Read More

BMJ Case Rep 2020 Feb 6;13(2). Epub 2020 Feb 6.

Department of Internal Medicine, University Hospital Limerick, Limerick, Ireland.

A 69-year-old woman presented with 9 months history of progressively worsening upper and lower limb weakness leading to reduced functional status. She was diagnosed with peripheral neuropathy (predominantly sensory) initially and had received immunoglobulins and pulsed steroid therapy with no benefit. She was following up with respiratory team for surveillance of hamartoma in left lower lobe. Read More

Eur J Pharm Sci 2020 Jan 5;142:105098. Epub 2019 Nov 5.

Respiratory Technology, Woolcock Institute of Medical Research, Glebe, NSW 2037, Australia; Discipline of Pharmacology, Faculty of Medicine and Health, Sydney, Australia. Electronic address:

Lymphangioleiomyomatosis (LAM) is a rare lung disease characterized by uncontrolled growth of smooth muscle -like cells in the lungs that can spread via the lymphatic system to other parts of the body. The current treatment for LAM, oral rapamycin, is limited by its low oral bioavailability and side effects. This study aims to develop an inhaled formulation of rapamycin solid lipid nanoparticles (Rapa-SLNs) to avoid first-pass metabolism, increase invivo half-life and facilitate entry into the lymphatic system through the lungs. Read More

Neurology 2019 10;93(18):814-816

From Shanghai Jiao Tong University School of Medicine (M.-s.Y.); and Department of Neurology (S.C., J.L.), Shanghai Ruijin Hospital, Affiliated Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Cureus 2019 Aug 26;11(8):e5489. Epub 2019 Aug 26.

Pulmonary and Critical Care Medicine, Abington Jefferson Health, Abington, USA.

Most of the endobronchial lesions are malignant in origin. In rare instances, benign lesions occupying the endobronchial tree can mimic malignant neoplasms on conventional imaging tests. We present a case of a middle-aged male patient who was admitted to our hospital with recurrent hemoptysis concerning for lung cancer on computed tomography (CT) of the chest. Read More

Pediatr Radiol 2019 10 16;49(11):1488-1505. Epub 2019 Oct 16.

, Minneapolis, USA.

DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. Diseases in the syndrome result from mutations in both copies of the gene DICER1, a highly conserved gene that is critically implicated in micro-ribonucleic acid (miRNA) biogenesis and hence modulation of messenger RNAs. In general, susceptible individuals carry an inherited germline mutation that disables one copy of DICER1; within tumors, a very characteristic second mutation alters function of the other gene copy. Read More

Orphanet J Rare Dis 2019 10 15;14(1):223. Epub 2019 Oct 15.

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.

Background: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern. Read More

Pediatr Blood Cancer 2020 01 23;67(1):e27973. Epub 2019 Sep 23.

Department of Pediatric Hematology-Oncology, Timone Children's Hospital, Marseille, France.

Hamartoma is the most common benign pulmonary tumor in adults, but is rarely described in the pediatric population. Giant chondromatous and progressive forms are even rarer. We report the novel case of a 13-month-old infant hospitalized for giant pulmonary chondromatous hamartoma discovered during a septic episode, rapidly progressive, with severe multifocal lesions, without clear response to several cytotoxic therapies. Read More

Clin Lab 2019 Sep;65(9)

Background: Pulmonary hamartoma is one of the most common benign tumors of the lung, the symptoms are often atypical, so its diagnosis is not so easy. We presented an elderly man with elevated D-dimer combined persistent acupuncture-like chest pain misdiagnosed as pulmonary embolism finally proved as lung hamartoma with secondary lung infection by bronchoscopy biopsy.

Methods: Appropriate laboratory tests were carried out. Read More

BMJ Case Rep 2019 Sep 16;12(9). Epub 2019 Sep 16.

Cancer Treatment Centers of America Chicago, Zion, Illinois, USA.

Hamartomas are the most common type of benign tumours of the lung, constituting a small portion of all lung neoplasms. Hamartomas are rare benign tumours composed of multiple mesenchymal cell lines. Two clinical types have been defined according to the location: intraparenchymal and endobronchial, more frequently the former. Read More

Med Hypotheses 2019 Nov 21;132:109372. Epub 2019 Aug 21.

Department of Pathology, El Camino Hospital, Mountain View, CA, USA. Electronic address:

Pulmonary lymphangioleiomyomatosis (PLAM) is a disease strongly associated with tuberous sclerosis. In PLAM patients, with and without clinical tuberous sclerosis, mutations in the tuberous sclerosis complex involving the proteins hamartin and tuberin have been found. These proteins are key regulators of the mTOR pathway. Read More

Dermatol Clin 2019 Oct;37(4):583-606

Department of Neurology, Wake Forest Baptist Health, 1 Medical Center Boulevard, Winston Salem, NC 27157, USA; Department of Internal Medicine, Section on Hematology and Oncology, Wake Forest Baptist Health, Winston Salem, NC 27157, USA; Translational Science Institute, Wake Forest Baptist Health, Winston Salem, NC 27157, USA.

Phakomatoses present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Café-au-lait macules, intertriginous freckling, Lisch nodules, and tumors including neurofibromas, malignant peripheral nerve sheath tumors, and gliomas. Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti lesions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidney, lung, and heart. Read More

Chest 2019 12 19;156(6):1062-1067. Epub 2019 Aug 19.

Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA. Electronic address:

Pulmonary lymphangioleiomyomatosis (LAM) is a rare genetic multisystem disease characterized by the nodular proliferation of smooth muscle-like LAM cells, progressive cystic changes of the lung, lymphatic abnormalities, and renal angiomyolipomas (AMLs). LAM can arise sporadically or in women with the autosomal dominant disorder, tuberous sclerosis complex (TSC), in which hamartomatous tumors of brain, heart, skin, kidney, and lung are found. LAM and TSC are caused by mutations in the TSC1 or TSC2 tumor suppressor genes leading to elevated mechanistic/mammalian target of rapamycin complex activity. Read More

J Pak Med Assoc 2019 Aug;69(8):1226

Department of Radiology, ShaukatKhanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

Solitary pulmonary nodules (SPN) are a diagnostic dilemma with a long list of differential diagnosis which extends to include both horizons i.e., benign as well as malignant conditions. Read More

Pediatr Pulmonol 2019 11 19;54(11):E14-E16. Epub 2019 Aug 19.

Mater Research Institute, The University of Queensland, St Lucia, Queensland, Australia.

Mesenchymal hamartoma of the chest wall is a rare benign nonneoplastic lesion of infancy arising from chondro-osseous tissue. Although its natural history suggests spontaneous regression, we describe a fatal case in a neonate with significant respiratory compromise. We explored the use of electrical impedance tomography to evaluate the dynamic impact of such space occupying lesions on a ventilated infant. Read More

Medicine (Baltimore) 2019 Jul;98(30):e16496

Department of Respiratory and Critical Care Medicine, Renmin Hospital of Wuhan University, Wuhan, China.

Rationale: Multiple pulmonary leiomyomatous hamartoma (MPLH) is an extremely rare benign disease that mostly occurs in women of reproductive age.

Patient Concerns: A 32-year-old female patient recently diagnosed with multiple bilateral pulmonary nodules. She has the symptoms of dry cough, chest tightness, dyspnea on exertion. Read More

Mayo Clin Proc 2019 07;94(7):1378-1379

Advanced Lung Disease and Lung Transplant Program, Inova Fairfax Hospital, VA.

Eur Respir J 2019 Jun 27;53(6). Epub 2019 Jun 27.

Dept of Internal Medicine, Center for Precision Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA

Histopathology 2019 Dec 6;75(6):825-832. Epub 2019 Oct 6.

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA.

Aims: Pulmonary chondromas, which are rare cartilaginous neoplasms that often arise in the setting of Carney triad, are morphologically similar to pulmonary hamartomas, which are much more common. There is evidence that succinate dehydrogenase (SDH) deficiency drives neoplasia in patients with Carney triad, and SDHB immunohistochemistry can be used as a surrogate marker to detect SDH deficiency. The aim of this study was to investigate the utility of SDHB immunohistochemistry in distinguishing pulmonary chondromas from hamartomas. Read More

Pediatr Dev Pathol 2019 Nov-Dec;22(6):579-583. Epub 2019 Jun 5.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

We report a rare case of sclerosing pneumocytoma occurring in a child with PTEN mutation. A 13-year-old female presented to the emergency department of an adult hospital following 2 to 3 days of upper respiratory tract infection symptoms. A primary lung lesion was discovered during her initial chest X-ray to rule out pneumonia. Read More

Genet Med 2019 11 22;21(11):2594-2604. Epub 2019 May 22.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

Purpose: To determine if mosaic tuberous sclerosis complex (TSC) can be stratified into subtypes that correspond with prognosis and extent of disease.

Methods: Next-generation sequencing of skin tumor and other samples was used to identify patients with mosaic pathogenic variants in TSC1 or TSC2. Extent of disease, onset age, and family history of TSC were determined through retrospective analysis of patient records. Read More

Lung Cancer 2019 08 16;134:268-271. Epub 2019 Apr 16.

Department of Diagnostic and Interventional Radiology, CHU Grenoble Alpes, 38043 Grenoble Cedex 09, France; Grenoble Alpes University, 23 Avenue Maquis du Grésivaudan, 38700 La Tronche, France.

J Gastroenterol Hepatol 2019 09 10;34(9):1474. Epub 2019 Apr 10.

Department of Gastroenterology and Hepatology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.

Acta Neuropathol 2020 Apr 5;139(4):689-701. Epub 2019 Apr 5.

Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Bader 104, Boston, MA, 02115, USA.

DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIb domain. DICER1 encodes a member of the microRNA biogenesis machinery. Read More

Biosci Rep 2019 03 19;39(3). Epub 2019 Mar 19.

Department of Internal Medicine, Inha University Hospital, Incheon, Korea.

Tuberous sclerosis complex (TSC) 1 and 2 function as tumor suppressors by inactivating the mammalian target of rapamycin (mTOR) pathway. Although the effect of platinum on TSC function has been studied, associations between gene variants and survival of cancer patients treated with platinum-based chemotherapy were not evaluated. Genetic variants of and were identified by next-generation sequencing and selected for further clinical evaluation based on predetermined criteria. Read More

Zhonghua Bing Li Xue Za Zhi 2019 Mar;48(3):251-253

Department of Pathology, Chengde Center Hospital, Hebei Province, Chengde 067000, China.

Respir Med Case Rep 2019 16;26:276-280. Epub 2019 Feb 16.

Department of Pathology and Laboratory Medicine, King Hussein Cancer Center, Jordan.

Mucinous cystic neoplasm of the lung is a rare well known entity in the WHO classification of lung tumors. It is defined as "a localized cystic mass filled with mucin and surrounded by a fibrous wall lined by well-differentiated columnar mucinous epithelium." The presence of ovarian-like stroma is not mentioned in this definition. Read More

Ann Thorac Surg 2019 09 27;108(3):e195-e198. Epub 2019 Feb 27.

Department of Pathology, Strasbourg University Hospital, Strasbourg, France.

We report an unusual case of a 53-year-old woman who presented with multiple lung cystic lesions presumed to be related to pulmonary hydatidosis, treated and followed for 3 years before surgical removal was decided. Unexpectedly, pathologic findings showed benign spindle cell proliferation. Immunohistochemical staining confirmed the smooth-muscle nature of the spindle cells, which were also positive for hormonal receptors and corresponded to multiple cystic pulmonary hamartomas. Read More

PLoS One 2019 22;14(2):e0212370. Epub 2019 Feb 22.

Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan.

Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary disease, generally manifesting as a tuberous sclerosis complex (TSC), characterised by multiple, small ground-glass nodular shadows on chest computed tomography (CT). Histological examination typically reveals multicentric, well-demarcated, nodular type II pneumocystic growth. Herein, we describe three cases of this rare pulmonary disease occurring within one family. Read More

An Bras Dermatol 2019 Jan-Feb;94(1):76-78

Department of Pathology, Laboratório Bacchi, Botucatu (SP), Brazil.

Cutaneous metastases are uncommon in daily practice, although very important, since they may be the first manifestation of an undiscovered primary neoplasm or the first indication of recurrence. Cutaneous metastases from the breast are the most frequent in women and cutaneous metastases from the lung are the most frequent in men. Thyroid carcinoma, despite representing the most frequent endocrine neoplasm, is considered a rare neoplasm, corresponding to 1% of malignant neoplasms diagnosed. Read More

Rare Tumors 2019 10;11:2036361318823926. Epub 2019 Jan 10.

Department of Surgery, Shiraz University of Medical Sciences, Shiraz, Iran.

Hamartoma of lung is a common tumor, majority of which are small and incidentally discovered during plain chest radiography. Our case is a 30-year-old gentleman with an extremely uncommon presentation of a common tumor, that is, a giant hamartoma of lung presenting as massive hemoptysis and intractable cough. To the best of our knowledge, such occurrence of giant pulmonary hamartoma is very uncommon and its presentation with massive hemoptysis is even more uncommon. Read More

J Clin Oncol 2019 03 4;37(8):668-676. Epub 2019 Feb 4.

2 Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.

Purpose: DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder caused by pathogenic germline variants in DICER1. We sought to quantify risk, hazard rates, and the probability of neoplasm incidence accounting for competing risks ("cumulative incidence") of neoplasms (benign and malignant) and standardized incidence ratios for malignant tumors in individuals with DICER1 pathogenic variation.

Patients And Methods: We combined data from three large cohorts of patients who carry germline pathogenic variation in DICER1. Read More

Tuberk Toraks 2018 Dec;66(4):312-316

Clinic of Interventional Pulmonology, Ankara Ataturk Chest Diseases and Chest Surgery Training and Research Hospital, Ankara, Turkey.

Introduction: Recently, treatment of endobronchial hamartomas with interventional bronchoscopic methods has become possible. Although there are several reports of therapeutic benefits, the protocol of administration varies between centers and high recurrence rates continue to be a problem. In this study, we aimed to show that cryotherapy applied to the root of the bronchial wall after removal of the intraluminal portion of endobronchial hamartoma with interventional bronchoscopic methods can prevent recurrences. Read More

Zhonghua Jie He He Hu Xi Za Zhi 2019 Jan;42(1):15-19

Department of Respiratory and Critical Medicine, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China.

To analyze the clinical manifestations of patients with endobronchial hamartoma(EH),and therefore to improve understanding of the disease. Data were retrospectively reviewed to describe the clinical characteristics, diagnosis procedures and prognosis of EH, including 5 patients in Beijing Anzhen Hospital, Capital Medical University from Jun 2007 to Feb 2018 and another 159 patients from Chinese and English literatures published after Jan 2000. The five patients, 4 males and 1 female, aged from 46 to 69 years[mean (56±7) years], were diagnosed with EH in our hospital. Read More

Ann Am Thorac Soc 2019 04;16(4):509-512

4 Division of Pulmonary, Critical Care and Sleep Medicine University of Cincinnati Cincinnati, Ohio.

Ann Thorac Surg 2019 07 7;108(1):e43-e44. Epub 2018 Dec 7.

Department of Pulmonary and Critical Care Medicine, Lankenau Medical Center, Wynnewood, Pennsylvania. Electronic address:

A 49-year-old woman presented after a respiratory infection with an abnormal chest roentgenogram demonstrating a cystic calcified mass at the base of the right lung. A chest computed tomographic angiogram demonstrated that the blood supply arose from the abdominal aorta. This extralobar sequestration was surgically resected using video-assisted thoracoscopy without complication. Read More

Semin Diagn Pathol 2019 Jan 16;36(1):2-10. Epub 2018 Nov 16.

Division of Surgical Pathology-Cytopathology & Autopsy Pathology, University of Virginia Medical Center, Room 3020, 1215 Lee Street, Charlottesville, VA 22908-0214, United States. Electronic address:

Tumor-like malformative lesions are seen throughout the body, and they may be confused with true neoplasms by clinicians and pathologists alike. In the lungs, they are principally represented by hamartomas-which may contain chondroid, adipocytic, fibroblastic, and myxoid tissue, with entrapped bronchiolar epithelium-and congenital pulmonary airway malformations (CPAMs). The latter have been subdivided into 5 groups, based on their histological features, but they basically comprise proliferations of malformed bronchopulmonary tissues of different types. Read More

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Read More

Lung India 2018 Nov-Dec;35(6):530-531

Department of Intervention and Diagnostic Radiology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Leg Med (Tokyo) 2019 Feb 9;36:37-40. Epub 2018 Oct 9.

Medical Examiner's Office of Hyogo Prefecture, Kobe, Japan; Department of Forensic Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Rhabdomyoma is the most common cardiac tumor diagnosed in fetuses, neonates and infants, and is closely linked to TSC. Here we describe an autopsy case of right ventricular rhabdomyoma in TSC. Read More

Eur J Obstet Gynecol Reprod Biol 2018 Dec 10;231:93-97. Epub 2018 Oct 10.

Department of Gynecology, National Cancer Center Hospital, Tokyo 104-0045, Japan.

Objectives: Incidentally discovered lymphangioleiomyomatosis (LAM) in sampled lymph nodes are infrequent but intractable issues for gynecologists. The aims of this study were to elucidate the prevalence of incidental nodal LAM in a consecutive cohort of gynecologic surgical specimens from Japanese patients, to document clinicopathological features of nodal LAM cases, and to investigate the association between the subsequent development of pulmonary LAM and tuberous sclerosis complex (TSC).

Study Design: We retrospectively reviewed 1732 consecutive Japanese patients who underwent gynecologic surgery with lymph node sampling in the National Cancer Center Hospital between January 2004 and April 2017. Read More